Canonical Allele Identifier: PA246816
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 198264
ClinVar RCV Id: RCV000179537 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV001112634 RCV001085617 RCV003888636 RCV003227695 RCV003488430 RCV004539683
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asn115Asp
CA246815
NM_025114.4:c.343A>G